"Haploinsufficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
| Descriptor ID |
D057895
|
| MeSH Number(s) |
G05.365.590.029.530.587 G05.380.350.500
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Haploinsufficiency".
Below are MeSH descriptors whose meaning is more specific than "Haploinsufficiency".
This graph shows the total number of publications written about "Haploinsufficiency" by people in this website by year, and whether "Haploinsufficiency" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 0 | 1 |
| 2011 | 3 | 2 | 5 |
| 2012 | 0 | 1 | 1 |
| 2013 | 4 | 2 | 6 |
| 2014 | 2 | 2 | 4 |
| 2015 | 0 | 1 | 1 |
| 2016 | 1 | 3 | 4 |
| 2017 | 1 | 2 | 3 |
| 2018 | 1 | 2 | 3 |
| 2019 | 1 | 3 | 4 |
| 2020 | 0 | 1 | 1 |
| 2021 | 2 | 1 | 3 |
| 2022 | 1 | 1 | 2 |
| 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations? J Gen Physiol. 2023 04 03; 155(4).
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NFKB2 haploinsufficiency identified via screening for IFN-a2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications. J Allergy Clin Immunol. 2023 04; 151(4):926-930.e2.
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EGR1 Haploinsufficiency Confers a Fitness Advantage to Hematopoietic Stem Cells Following Chemotherapy. Exp Hematol. 2022 Nov; 115:54-67.
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B Cell-Intrinsic IRF4 Haploinsufficiency Impairs Affinity Maturation. J Immunol. 2021 12 15; 207(12):2992-3003.
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021 07; 23(7):1234-1245.
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Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway. Sci Rep. 2021 01 21; 11(1):2013.
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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
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Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study. Cancer Med. 2019 09; 8(12):5609-5618.
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Gata4 regulates hedgehog signaling and Gata6 expression for outflow tract development. PLoS Genet. 2019 05; 15(5):e1007711.
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Measuring intolerance to mutation in human genetics. Nat Genet. 2019 05; 51(5):772-776.